Dent disease manifesting as nephrotic syndrome Article Swipe

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Qiaoping Chen , Yongzhen Li , Xiaochuan Wu ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.5582/irdr.2022.01125

Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the CLCN5 gene and OCRL gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis or nephrolithiasis, and progressive renal failure. Nephrotic syndrome is a glomerular disorder characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. In this study, we report two cases of Dent disease manifesting as nephrotic syndrome. Two patients were initially diagnosed with nephrotic syndrome due to edema, nephrotic range proteinuria, hypoalbuminemia, and hyperlipidemia, and responded to prednisone and tacrolimus therapy. Genetic testing revealed mutations in the OCRL and CLCN5 genes. They were eventually diagnosed with Dent disease. Nephrotic syndrome is a rare and insidious phenotype of Dent disease, and its pathogenesis is not fully understood. Patients with nephrotic syndrome are recommended to routinely undergo urinary protein classification and urinary calcium testing, especially those with frequently recurrent nephrotic syndrome and poor response to steroid and immunosuppressive therapy. To date, there is no effective drug treatment for Dent disease. About 30% to 80% of patients progress to end-stage renal disease at the age of 30-50.

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Nephrotic syndrome Medicine Hypoalbuminemia Hypercalciuria Proteinuria Internal medicine Hyperlipidemia Gastroenterology Endocrinology Urinary system Kidney Diabetes mellitus

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Type: article
Language: en
Landing Page: https://doi.org/10.5582/irdr.2022.01125
PDF: https://www.jstage.jst.go.jp/article/irdr/12/1/12_2022.01125/_pdf
OA Status: diamond
Cited By: 1
References: 17
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DOI: https://doi.org/10.5582/irdr.2022.01125

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Title: Dent disease manifesting as nephrotic syndrome

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Language: en

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Publication year: 2023

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Publication date: 2023-02-21

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Authors: Qiaoping Chen, Yongzhen Li, Xiaochuan Wu

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Landing page: https://doi.org/10.5582/irdr.2022.01125

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Concepts: Nephrotic syndrome, Medicine, Hypoalbuminemia, Hypercalciuria, Proteinuria, Internal medicine, Hyperlipidemia, Gastroenterology, Endocrinology, Urinary system, Kidney, Diabetes mellitus

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Cited by: 1

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abstract_inverted_index.mainly	11
abstract_inverted_index.report	56
abstract_inverted_index.study,	54
abstract_inverted_index.weight	28
abstract_inverted_index.Genetic	90
abstract_inverted_index.calcium	139
abstract_inverted_index.disease	1, 61, 177
abstract_inverted_index.massive	46
abstract_inverted_index.protein	135
abstract_inverted_index.steroid	152
abstract_inverted_index.testing	91
abstract_inverted_index.tubular	7
abstract_inverted_index.undergo	133
abstract_inverted_index.urinary	134, 138
abstract_inverted_index.Patients	125
abstract_inverted_index.X-linked	4
abstract_inverted_index.disease,	117
abstract_inverted_index.disease.	106, 166
abstract_inverted_index.disorder	43
abstract_inverted_index.failure.	37
abstract_inverted_index.patients	67, 172
abstract_inverted_index.progress	173
abstract_inverted_index.response	150
abstract_inverted_index.revealed	92
abstract_inverted_index.syndrome	39, 73, 108, 128, 147
abstract_inverted_index.testing,	140
abstract_inverted_index.therapy.	89, 155
abstract_inverted_index.Nephrotic	38, 107
abstract_inverted_index.diagnosed	70, 103
abstract_inverted_index.disorder,	8
abstract_inverted_index.effective	161
abstract_inverted_index.end-stage	175
abstract_inverted_index.initially	69
abstract_inverted_index.insidious	113
abstract_inverted_index.molecular	27
abstract_inverted_index.mutations	14, 93
abstract_inverted_index.nephrotic	64, 72, 77, 127, 146
abstract_inverted_index.phenotype	114
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abstract_inverted_index.recurrent	145
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abstract_inverted_index.frequently	144
abstract_inverted_index.glomerular	42
abstract_inverted_index.prednisone	86
abstract_inverted_index.tacrolimus	88
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abstract_inverted_index.manifesting	62
abstract_inverted_index.progressive	35
abstract_inverted_index.recommended	130
abstract_inverted_index.understood.	124
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abstract_inverted_index.proteinuria,	29, 47, 79
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abstract_inverted_index.hypoalbuminemia,	48, 80
abstract_inverted_index.nephrocalcinosis	31
abstract_inverted_index.nephrolithiasis,	33
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countries_distinct_count	1
institutions_distinct_count	3
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